Ache<tm1Loc> Targeted Allele Detail MGI Mouse (MGI:2179948)

Ache^tm1Loc
Targeted Allele Detail

Nomenclature

Symbol:	Ache^tm1Loc
Name:	acetylcholinesterase; targeted mutation 1, Oksana Lockridge
MGI ID:	MGI:2179948
Synonyms:	AChE ko, AChE-
Gene:	Ache Location: Chr5:137728747-137735694 bp, + strand Genetic Position: Chr5, 77.0 cM

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:56242
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation
description

Allele Type:	Targeted (knock-out)
Mutations:	Insertion, Intragenic deletion
	A 5 kb genomic fragment containing exons 2-5 was replaced by a neomycin resistance gene cassette. Enzymatic activity assays on blood serum derived from homozygous mice confirmed that no functional protein was made from this allele. (J:56242)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 1 strain available Cell Lines: 0 lines available
Carrying any Ache Mutation:	1 strain or line available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	hm2
behavior/neurological		√
impaired righting response		√
tremors		√
circling		√
abnormal posture		√
abnormal gait		√
		hm1	hm2
craniofacial		√
delayed ear emergence		√
		hm1	hm2
growth/size		√
decreased body weight		√
		hm1	hm2
hearing/vestibular/ear		√
circling		√
delayed ear emergence		√
		hm1	hm2
homeostasis/metabolism			√
abnormal physiological response to xenobiotics			√
increased sensitivity to xenobiotic induced morbidity/mortality			√
increased physiological sensitivity to xenobiotics			√
		hm1	hm2
lethality/postnatal		√
postnatal lethality		√
		hm1	hm2
lethality/prenatal-perinatal		√
prenatal lethality		√
		hm1	hm2
life span/aging			√
increased sensitivity to xenobiotic induced morbidity/mortality			√
		hm1	hm2
nervous system		√
abnormal cerebrum morphology		√
		hm1	hm2
vision/eye		√
eyelids fail to open		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Ache^tm1Loc/Ache^tm1Loc	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ
lethality/prenatal-perinatal prenatal lethality (J:76453) lethality/postnatal postnatal lethality (J:76453) pups die during the postnatal period between P13-21; none survive beyond 21 days growth/size decreased body weight (J:76453) weight is lower than wild-type from P2 onward, with a clear difference noted at 7 days after birth; weights decreased 1-2 days prior to death at ~P14 behavior/neurological impaired righting response (J:76453) no righting reflex develops even by 21 days of age, whereas wild-type controls show reflex by 8 days of age tremors (J:76453) fine motor tremor observed at 3-4 days of age circling (J:76453) null mice exhibit continuous circling movement upon separation from the nest abnormal posture (J:76453) splayed feet and legs abnormal gait (J:76453) null mice are born at frequency of 20% instead of expected 25% nervous system abnormal cerebrum morphology (J:76453) cerebral hemispheres are transulucent in 12-day old mice, whereas they are opaque in wild-type littermates hearing/vestibular/ear circling (J:76453) null mice exhibit continuous circling movement upon separation from the nest delayed ear emergence (J:76453) lack of maturation of the ear structure vision/eye eyelids fail to open (J:76453) failure of eyelids to open; sealed even on P21, while littermates open on P8 to 12 craniofacial delayed ear emergence (J:76453) lack of maturation of the ear structure
Genotype	Allelic Composition	Genetic Background
hm2	Ache^tm1Loc/Ache^tm1Loc	involves: 129S1/Sv * 129X1/SvJ
life span/aging increased sensitivity to xenobiotic induced morbidity/mortality (J:130048) CPO-treated mice die within 11 minutes unlike simiarly treated wild-type mice homeostasis/metabolism abnormal physiological response to xenobiotics (J:130048) donepezil-treated mice exhibit a thick exudates forming over the eyes unlike similarly treated wild-type mice but similar to homozygous mice under stress however, donepezil-treated mice do not exhibit a change in body temperature increased sensitivity to xenobiotic induced morbidity/mortality (J:130048) CPO-treated mice die within 11 minutes unlike simiarly treated wild-type mice increased physiological sensitivity to xenobiotics (J:130048) CPO-treated mice exhibit cholinergic symptoms and die within 11 minutes unlike simialrly treated wild-type mice

References

Original:	J:56242 Xie W et al., "Knockout of one acetylcholinesterase allele in the mouse." Chem Biol Interact 1999 May 14;119-120():289-99
All:	15 reference(s)

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